P53S (p.Pro53Ser) variant of VCAN (Versican core protein)
P53S (p.Pro53Ser) in VCAN (Versican core protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Vitreoretinopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
P53S (p.Pro53Ser) variant details
- p.Pro53Ser
- rs201466502
- ClinGen CA3332406
- ClinVar RCV001046583
- ClinVar RCV001154162
- Conflicting interpretations
- Inborn genetic diseases; not provided; Vitreoretinopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.08
- CADD 16.50
- PolyPhen-2 0.04
- SIFT 0.08
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Vitreoretinopathy)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)